D36E (p.Asp36Glu) variant of LDLR (Low-density lipoprotein receptor)
D36E (p.Asp36Glu) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Familial hypercholesterolemia; Hypercholesterolemia, f. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
D36E (p.Asp36Glu) variant details
- p.Asp36Glu
- rs373144619
- ClinGen CA10584756
- ClinVar RCV000238476
- ClinVar RCV001854882
- Conflicting interpretations
- Cardiovascular phenotype; Familial hypercholesterolemia; Hypercholesterolemia, f
- Missense
- Variant Prioritization Score for Impact Estimate 0.096
- CADD 4.53
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Familial hypercholesterolemia; Hyperch)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)